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Related Concept Videos

Gene Therapy00:59

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Gene therapy is a technique where a gene is inserted into a person’s cells to prevent or treat a serious disease. The added gene may be a healthy version of the gene that is mutated in the patient, or it could be a different gene that inactivates or compensates for the patient’s disease-causing gene. For example, in patients with severe combined immunodeficiency (SCID) due to a mutation in the gene for the enzyme adenosine deaminase, a functioning version of the gene can be...
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At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category,...
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Most organisms use photoreceptors to sense and respond to light. Examples of photoreceptors include bacteriorhodopsins and bacteriophytochromes in some bacteria, phytochromes in plants, and rhodopsins in the photoreceptor cells of the vertebral retina. The light-sensitive property of these receptors is because of the bound chromophores, such as bilin in the phytochromes and retinal in the rhodopsins.
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Gene Therapy for Achromatopsia.

Megan F Baxter1,2, Grace A Borchert2,3,4

  • 1Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 9DU, UK.

International Journal of Molecular Sciences
|September 14, 2024
PubMed
Summary
This summary is machine-generated.

Achromatopsia, a rare genetic eye disorder, is caused by cone dysfunction. Gene therapy offers promising preclinical and clinical trial results for treating this condition.

Keywords:
achromatopsiacone dysfunctiongene therapy

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Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Achromatopsia is the most common cone dysfunction syndrome, affecting 1 in 30,000 individuals.
  • It's an autosomal recessive disorder with genetic variants in several genes, notably CNGA3 and CNGB3, crucial for cone phototransduction.
  • Symptoms include poor visual acuity, nystagmus, photophobia, and complete color vision loss from birth.

Purpose of the Study:

  • To review the genetic basis of achromatopsia.
  • To explore genotype-phenotype correlations using multimodal retinal imaging.
  • To discuss the progress and challenges in gene therapy clinical trials for achromatopsia.

Main Methods:

  • Review of genetic variants associated with achromatopsia.
  • Analysis of multimodal retinal imaging in characterizing patients.
  • Survey of current gene therapy clinical trials and preclinical studies.

Main Results:

  • Mutations in CNGA3 or CNGB3 account for up to 90% of achromatopsia cases.
  • Multimodal imaging aids in genotype-based patient characterization.
  • Preclinical gene therapy studies show anatomical and functional improvements.

Conclusions:

  • Gene therapy is a promising avenue for achromatopsia treatment, with multiple clinical trials underway.
  • Understanding genetic heterogeneity and imaging correlations is key for targeted therapies.
  • Further research is needed to address challenges in gene therapy efficacy and accessibility.